2VXO.B | GMPS

General Structure Information 2vxo GMPS human gmp synthetase in complex with xmp 2.5Å AUTH M.WELIN,L.LEHTIO,A.JOHANSSON,S.FLODIN,T.NYMAN,AUTH 2 L.TRESAUGUES,M.HAMMARSTROM,S.GRASLUND,P.NORDLUNDTITL SUBSTRATE SPECIFICITY AND OLIGOMERIZATION OF HUMANTITL 2 GMP SYNTHETASEREF J.MOL.BIOL. V. 425 4323 2013REFN ISSN 0022-2836PMID 23816837DOI 10.1016/J.JMB.2013.06.032 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3WEF.C | FDFT1

General Structure Information 3wef FDFT1 crystal structure of the human squalene synthase in complex with farnesyl thiopyrophosphate 2.35Å AUTH C.I.LIU,W.Y.JENG,W.J.CHANG,M.F.SHIH,T.P.KO,A.H.J.WANGTITL STRUCTURAL INSIGHTS INTO THE CATALYTIC MECHANISM OF HUMANTITL 2 SQUALENE SYNTHASEREF ACTA CRYSTALLOGR.,SECT.D V. 70 231 2014REFN ISSN 0907-4449DOI 10.1107/S1399004713026230 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4L3V.B | CBS

General Structure Information 4l3v CBS crystal structure of delta516-525 human cystathionine beta-synthase 3.63Å AUTH J.ERENO-ORBEA,T.MAJTAN,I.OYENARTE,J.P.KRAUS,AUTH 2 L.A.MARTINEZ-CRUZTITL STRUCTURAL BASIS OF REGULATION AND OLIGOMERIZATION OF HUMANTITL 2 CYSTATHIONINE BETA-SYNTHASE, THE CENTRAL ENZYME OFTITL 3 TRANSSULFURATION.REF PROC.NATL.ACAD.SCI.USA V. 110 E3790 2013REFN ISSN 0027-8424PMID 24043838DOI 10.1073/PNAS.1313683110 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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2ZT7.A | GARS

General Structure Information 2zt7 GARS crystal structure of human glycyl-trna synthetase (glyrs) in complex with glycine and atp 2.7Å AUTH R.T.GUO,Y.E.CHONG,M.GUO,X.L.YANGTITL CRYSTAL STRUCTURES AND BIOCHEMICAL ANALYSES SUGGESTTITL 2 UNIQUE MECHANISM AND ROLE FOR HUMAN GLYRS IN AP4ATITL 3 HOMEOSTASISREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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1PKX.D | ATIC

General Structure Information 1pkx ATIC crystal structure of human atic in complex with xmp 1.9Å AUTH D.W.WOLAN,C.G.CHEONG,S.E.GREASLEY,I.A.WILSONTITL STRUCTURAL INSIGHTS INTO THE HUMAN AND AVIAN IMPTITL 2 CYCLOHYDROLASE MECHANISM VIA CRYSTAL STRUCTURESTITL 3 WITH THE BOUND XMP INHIBITOR.REF BIOCHEMISTRY V. 43 1171 2004REFN ISSN 0006-2960PMID 14756553DOI 10.1021/BI030162I Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]

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2W4L.B | DCTD

General Structure Information 2w4l DCTD human dcmp deaminase 2.1Å AUTH M.I.SIPONEN,M.MOCHE,C.H.ARROWSMITH,H.BERGLUND,AUTH 2 C.BOUNTRA,R.COLLINS,L.G.DAHLGREN,A.M.EDWARDS,AUTH 3 S.FLODIN,A.FLORES,S.GRASLUND,M.HAMMARSTROM,AUTH 4 A.JOHANSSON,I.JOHANSSON,T.KARLBERG,T.KOTENYOVA,AUTH 5 L.LEHTIO,M.E.NILSSON,T.NYMAN,C.PERSSON,J.SAGEMARK,AUTH 6 H.SCHULER,A.G.THORSELL,L.TRESAUGUES,S.VAN DEN BERG,AUTH 7 J.WEIGELT,M.WELIN,M.WIKSTROM,M.WISNIEWSKA,AUTH 8 P.NORDLUNDTITL THE CRYSTAL STRUCTURE OF HUMAN DCMP DEAMINASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2V40.A | ADSS

General Structure Information 2v40 ADSS human adenylosuccinate synthetase isozyme 2 in complex with gdp 1.9Å AUTH M.WELIN,M.MOCHE,C.ARROWSMITH,H.BERGLUND,R.BUSAM,AUTH 2 R.COLLINS,L.G.DAHLGREN,A.EDWARDS,S.FLODIN,A.FLORES,AUTH 3 S.GRASLUND,M.HAMMARSTROM,B.M.HALLBERG,AUTH 4 L.HOLMBERG-SCHIAVONE,I.JOHANSSON,A.KALLAS,AUTH 5 T.KARLBERG,T.KOTENYOVA,L.LEHTIO,T.NYMAN,D.OGG,AUTH 6 C.PERSSON,J.SAGEMARK,P.STENMARK,M.SUNDSTROM,AUTH 7 A.G.THORSELL,S.VAN-DEN-BERG,J.WEIGELT,P.NORDLUNDTITL HUMAN ADENYLOSUCCINATE SYNTHETASE ISOZYME 2 INTITL 2 COMPLEX WITH GDPREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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3COG.B | CTH

General Structure Information 3cog CTH crystal structure of human cystathionase (cystathionine gamma lyase) in complex with dl-propargylglycine 2.0Å AUTH Q.SUN,R.COLLINS,S.HUANG,L.HOLMBERG-SCHIAVONE,G.S.ANAND,AUTH 2 C.H.TAN,S.VAN-DEN-BERG,L.W.DENG,P.K.MOORE,T.KARLBERG,AUTH 3 J.SIVARAMANTITL STRUCTURAL BASIS FOR THE INHIBITION MECHANISM OF HUMANTITL 2 CYSTATHIONINE GAMMA-LYASE, AN ENZYME RESPONSIBLE FOR THETITL 3 PRODUCTION OF H(2)S.REF J.BIOL.CHEM. V. 284 3076 2009REFN ISSN 0021-9258PMID 19019829DOI 10.1074/JBC.M805459200 Variant Set […]

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2V9Y.A | GART

General Structure Information 2v9y GART human aminoimidazole ribonucleotide synthetase 2.1Å AUTH M.WELIN,J.G.GROSSMANN,S.FLODIN,T.NYMAN,P.STENMARK,AUTH 2 L.TRESAUGUES,T.KOTENYOVA,I.JOHANSSON,P.NORDLUND,L.LEHTIOTITL STRUCTURAL STUDIES OF TRI-FUNCTIONAL HUMAN GART.REF NUCLEIC ACIDS RES. V. 38 7308 2010REFN ISSN 0305-1048PMID 20631005DOI 10.1093/NAR/GKQ595 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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